Ophthalmic follow‐up of patients with tyrosinaemia type I on NTBC
Abstract
Summary: NTBC has revolutionized the management of tyrosinaemia type I, although animal experiments have shown that long‐term administration may produce corneal opacities analogous to those in tyrosinaemia type II. We have assessed the prevalence of ocular side‐effects in 11 tyrosinaemia type I patients on NTBC attending the Birmingham Children's Hospital. Despite high plasma tyrosine concentrations in some patients, they did not experience symptoms or signs of ocular toxicity.
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There does not appear to be a clear cut-off of plasma tyrosine concentrations either in man or experimental animals for eye complications.
“There does not appear to be a clear cut-off of plasma tyrosine concentrations either in man or experimental animals [39,40].”
From Recommendations for the management of tyrosinaemia type 1 (2013) · cites this paper as [39]
Eye complications do not appear to be common in HT1.
“Eye complications do not appear to be common [16,39] but periodic eye examination with a slit lamp may be indicated (for example annually).”
From Recommendations for the management of tyrosinaemia type 1 (2013) · cites this paper as [39]
Cites
Tyrosinaemia type I and NTBC (2‐(2‐nitro‐4‐trifluoromethylbenzoyl)‐1,3‐cyclohexanedione)
Holme, E., & Lindstedt, S. (1998) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005410820201 · Cited by 264 · see citing works
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Chinsky, J. M., Singh, R., Ficicioglu, C., van Karnebeek, C. D. M., Grompe, M., Mitchell, G., Waisbren, S. E., Gucsavas-Calikoglu, M., Wasserstein, M. P., Coakley, K., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.101 · Cited by 247 · see citing works
Recommendations for the management of tyrosinaemia type 1
de Laet, C., Dionisi-Vici, C., Leonard, J. V., McKiernan, P., Mitchell, G., Monti, L., de Baulny, H. O., Pintos-Morell, G., & Spiekerkötter, U. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-8 · Cited by 227 · see citing works
“Eye complications do not appear to be common [16,39] but periodic eye examination with a slit lamp may be indicated (for example annually).”
BackgroundSelf-citationMayorandan, S., Meyer, U., Gokcay, G., Segarra, N. G., de Baulny, H. O., van Spronsen, F., Zeman, J., de Laet, C., Spiekerkoetter, U., Thimm, E., et al. (2014) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-014-0107-7 · Cited by 131 · see citing works
“It was previously reported that ocular symptoms were associated with high tyrosine levels [43], whereas in another study patients with high plasma tyrosine levels did not develop any ocular symptoms [44].”
Self-citationExperience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1
Santra, S., & Baumann, U. (2008) · Expert Opinion on Pharmacotherapy · doi:10.1517/14656566.9.7.1229 · Cited by 68 · see citing works
Lock, E. A., Gaskin, P., Ellis, M., Provan, W. M., & Smith, L. L. (2006) · Toxicology and Applied Pharmacology · doi:10.1016/j.taap.2006.01.015 · Cited by 35 · see citing works
- Authors
- Gissen, P., Preece, M. A., Willshaw, H. A., & McKiernan, P. J.
- Affiliations
- Birmingham Children's Hospital (GB)
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 2003-07
- Volume
- 26
- Issue
- 1
- Pages
- 13-16
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W1508404620
- Cited by
- 49
- References
- 1
- Citations by year
- 2025: 1 · 2023: 1 · 2022: 1 · 2021: 1 · 2020: 2 · 2019: 2 · 2017: 7 · 2015: 4 · 2014: 2 · 2013: 3 · 2012: 2
- FWCI
- 2.85
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Inherited Metabolic Disease (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Pathology and Forensic Medicine › Biomedical Research and Pathophysiology
- Keywords
- NTBC, ocular toxicity, corneal opacity, plasma tyrosine, ophthalmic follow-up, long-term drug safety
- MeSH terms
- Child, Child, Preschool, Corneal Opacity, Cyclohexanones, Enzyme Inhibitors, Female, Follow-Up Studies, Humans, Infant, Infant, Newborn, Male, Nitrobenzoates, Tyrosine, Tyrosinemias
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